Caring for individuals with a difference of sex development (DSD): a consensus statement
M Cools, A Nordenström, R Robeva, J Hall… - Nature Reviews …, 2018 - nature.com
The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …
development) refers to a heterogeneous group of congenital conditions affecting human sex …
Genetics of azoospermia
F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Disorders of sex development (DSDs) are conditions affecting development of the gonads or
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …
Towards improved genetic diagnosis of human differences of sex development
EC Délot, E Vilain - Nature Reviews Genetics, 2021 - nature.com
Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …
worldwide, differences of sex development (DSD) lack recognition and research funding. As …
Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU …
The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …
the most complex fields in medicine. It requires a multidisciplinary team conducting a …
Management of 46, XY differences/disorders of sex development (DSD) throughout life
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …
conditions that result in discordance between an individual's sex chromosomes, gonads …
Formin-mediated nuclear actin at androgen receptors promotes transcription
J Knerr, R Werner, C Schwan, H Wang, P Gebhardt… - Nature, 2023 - nature.com
Steroid hormone receptors are ligand-binding transcription factors essential for mammalian
physiology. The androgen receptor (AR) binds androgens mediating gene expression for …
physiology. The androgen receptor (AR) binds androgens mediating gene expression for …
Genetics of 46, XY gonadal dysgenesis
M Elzaiat, K McElreavey, A Bashamboo - Best Practice & Research Clinical …, 2022 - Elsevier
In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …
formation and represses ovarian development. Disruption of this process results in a lack of …
The persistent Müllerian duct syndrome: an update based upon a personal experience of 157 cases
JY Picard, RL Cate, C Racine, N Josso - Sexual Development, 2017 - karger.com
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone
(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations …
(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …